Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A-Reference-Cited by-同舟云学术

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

Published:2019-02-28 Issue:3 Volume:85 Page:316-330
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Tao Feifei¹,Beecham Gary W.¹,Rebelo Adriana P.¹,Svaren John²,Blanton Susan H.¹,Moran John J.²,Lopez-Anido Camila²,Morrow Jasper M.³,Abreu Lisa¹,Rizzo Devon⁴,Kirk Callyn A.⁴,Wu Xingyao⁵,Feely Shawna⁵,Verhamme Camiel⁶,Saporta Mario A.⁷,Herrmann David N.⁸,Day John W.⁹,Sumner Charlotte J.¹⁰¹¹,Lloyd Thomas E.¹⁰¹¹,Li Jun¹²,Yum Sabrina W.¹³,Taroni Franco¹⁴,Baas Frank¹⁵,Choi Byung-Ok¹⁶,Pareyson Davide¹⁴,Scherer Steven S.¹⁷,Reilly Mary M.³,Shy Michael E.⁵,Züchner Stephan¹,

Affiliation:

1. Department for Human Genetics and Hussman Institute for Human Genomics; University of Miami; Miami FL

2. Department of Comparative Biosciences and Waisman Center; University of Wisconsin; Madison WI

3. Medical Research Council Centre for Neuromuscular Diseases; University College London Institute of Neurology; London United Kingdom

4. Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center; University of South Florida; Tampa FL

5. Department of Neurology; University of Iowa; Iowa City IA

6. Department of Neurology; Academic Medical Center; Amsterdam the Netherlands

7. Department of Neurology; University of Miami; Miami FL

8. Department of Neurology; University of Rochester; Rochester NY

9. Department of Neurology; Stanford University; Palo Alto CA

10. Department of Neurology; Johns Hopkins University School of Medicine; Baltimore MD

11. Department of Neuroscience; Johns Hopkins University School of Medicine; Baltimore MD

12. Department of Neurology; Wayne State University School of Medicine; Detroit MI

13. Division of Neurology; Children's Hospital of Philadelphia; Philadelphia PA

14. Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS); Foundation Carlo Besta Neurological Institute; Milan Italy

15. Department of Clinical Genetics; Leiden University Medical Center; Leiden the Netherlands

16. Department of Neurology, Samsung Medical Center; Sungkyunkwan University School of Medicine; Seoul South Korea

17. Department of Neurology, Perelman School of Medicine; University of Pennsylvania; Philadelphia PA

Funder

Medical Research Council Canada

National Institutes of Health

National Institutes of Neurological Diseases and Stroke

National Institute for Health Research University College London Hospitals Biomedical Research Centre

Office of Rare Diseases

NIH National Institute of Neurological Diseases and Stroke

Muscular Dystrophy Association

Charcot-Marie-Tooth Association

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.25426/fullpdf

Reference51 articles.

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2. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis;Fridman;J Neurol Neurosurg Psychiatry,2015

3. DNA duplication associated with Charcot-Marie-Tooth disease type 1A;Lupski;Cell,1991

5. Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease;Sturtz;Eur Neurol,1997

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